Canonical Allele Identifier: CA6746285

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761305C>T , CM000674.2:g.101761305C>T	GRCh38
NC_000012.11:g.102155083C>T , CM000674.1:g.102155083C>T	GRCh37
NC_000012.10:g.100679214C>T	NCBI36
NG_021243.1:g.74563G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2957G>A MANE Select	NP_077288.2:p.Arg986His
ENST00000299314.12:c.2957G>A MANE Select	ENSP00000299314.7:p.Arg986His
NM_024312.4:c.2957G>A	NP_077288.2:p.Arg986His
ENST00000299314.11:c.2957G>A	ENSP00000299314.7:p.Arg986His
XM_006719593.2:c.2957G>A	XP_006719656.1:p.Arg986His
XM_006719593.3:c.2957G>A	XP_006719656.1:p.Arg986His
XM_011538731.1:c.2876G>A	XP_011537033.1:p.Arg959His
XM_011538731.2:c.2876G>A	XP_011537033.1:p.Arg959His
XM_017019961.1:c.2741G>A	XP_016875450.1:p.Arg914His
XM_017019962.2:c.1730G>A	XP_016875451.1:p.Arg577His